WG1 Diagnostic Challenge

WG Leaders: Prof Valerie Cormier-Daire/ Dr Meena Balasubramanian




Hôpital Necker-Enfants Malades valerie.cormier-daire@inserm.fr




Sheffield Children’s NHS Foundation Trust, Western Bank, Sheffield meena.balasubramanian@sch.nhs.uk



To promote good quality and safe care to patients suffering from Rare Diseases (RD)

WG1 DIAGNOSTIC CHALLENGE will pull together the best practices and procedures in the treatment of Rare BDs and will elaborate a first version of the Standardized Protocol for the treatment of OI. The provisional Protocol will be evaluated by specialists within the Network, according with scientific knowledge and evidences from clinical practices and most recent research outcomes.

  • Understand what the current practices are in different HCP’s focusing initially on OI and achondroplasia
  • Develop an idea of the diagnostic challenges, especially pertaining to diagnosis of rare bone disorders (not exclusive to OI)
  • To develop routines for good clinical practice in diagnostics (with WG3)
  • To develop routines for rapid interchange of information, skills and practice to shorten time to diagnosis and treatment (with WG7)
  • To develop evidence based clinical guidelines (starting with OI and achondroplasia and in collaboration with WG2).